Connexin: Difference between revisions

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Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)

Doaa Naffaa, Safaa Salah Hussiesy, Michal Harel, Jaime Prilusky

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 <StructureSection load='2ZW3' size='340' side='right' caption='Caption for this structure' scene='>
 =Introduction=
-[http://en.wikipedia.org/wiki/Connexin Connexins] are integral transmembrane [http://en.wikipedia.org/wiki/Protein proteins] that form intercellular channels in [http://www.ucmp.berkeley.edu/vertebrates/vertintro.html vertebrates]. Connexin 26 is encoded by the [http://www.uniprot.org/uniprot/P29033 GJB2 gene]. Six connexins form a hexamerical assembly, known as [http://en.wikipedia.org/wiki/Connexon connexon] or hemichannel, which form an intercellular [http://www.ebi.ac.uk/QuickGO/GTerm?id=GO:0005243#term=info gap junction channel]. Gap junctions are specialized membrane regions containing hundreds of intercellular communication channels that allow the passage of molecules such as ions, metabolites, nucleotides and small peptides. Virtually all cells in solid tissues are coupled by gap junctions, thus it is not surprising that mutations in connexin genes have been linked to a variety of [http://omim.org/entry/121011?search=gjb2%20deafness-causing&highlight=deafnesscausing%20deafness%20gjb2%20deaf%20causing Connexin human diseases], including [http://radiopaedia.org/articles/congenital-cardiovascular-anomalies cardiovascular anomalies], [http://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/basics/definition/con-20019948 peripheral neuropathy], skin disorders, [http://en.wikipedia.org/wiki/Cataract cataracts], and deafness.
+[http://en.wikipedia.org/wiki/Connexin Connexins] are integral transmembrane [http://en.wikipedia.org/wiki/Protein proteins] that form intercellular channels in [https://en.wikipedia.org/wiki/Vertebrate vertebrates]. Connexin 26 is encoded by the [http://www.uniprot.org/uniprot/P29033 GJB2 gene]. Six connexins form a hexamerical assembly, known as [http://en.wikipedia.org/wiki/Connexon connexon] or hemichannel, which form an intercellular [https://en.wikipedia.org/wiki/Gap_junction gap junction channel]. Gap junctions are specialized membrane regions containing hundreds of intercellular communication channels that allow the passage of molecules such as ions, metabolites, nucleotides and small peptides. Virtually all cells in solid tissues are coupled by gap junctions, thus it is not surprising that mutations in connexin genes have been linked to a variety of [http://omim.org/entry/121011?search=gjb2%20deafness-causing&highlight=deafnesscausing%20deafness%20gjb2%20deaf%20causing Connexin human diseases], including cardiovascular anomalies, peripheral neuropathy, skin disorders, [http://en.wikipedia.org/wiki/Cataract cataracts], and deafness.
 Of notice, about half of all cases of human pre-lingual recessive deafness in countries surrounding the Mediterranean have been linked to mutations in the  GJB2 gene <ref name='important'>pmid 24624091</ref>,<ref name='Structure'>pmid 19622859</ref>